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Glycogen storage disease due to aldolase A deficiency
1 OMIM reference -
1 associated gene
42 connected diseases
No signs/symptoms info
Disease Type of connection
Fibronectin glomerulopathy
Giant cell glioblastoma
Hereditary fructose intolerance
Leber congenital amaurosis
Senior-Loken syndrome
Congenital glaucoma
Juvenile glaucoma
17q11 microdeletion syndrome
Alternating hemiplegia of childhood
Autosomal dominant limb-girdle muscular dystrophy type 1F
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Benign paroxysmal torticollis of infancy
Cabezas syndrome
Constitutional mismatch repair deficiency syndrome
Cowden syndrome
Craniometaphyseal dysplasia
Dedifferentiated liposarcoma
Estrogen resistance syndrome
Familial or sporadic hemiplegic migraine
Familial paroxysmal ataxia
Fanconi anemia
Glycogen storage disease due to muscle beta-enolase deficiency
Hereditary nonpolyposis colon cancer
Huntington disease
Hypoplastic left heart syndrome
Juvenile Huntington disease
LIG4 syndrome
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Muir-Torre syndrome
Non-polyposis Turcot syndrome
Oculodentodigital dysplasia
Omenn syndrome
Primary biliary cirrhosis
Proteus syndrome
Pseudohypoaldosteronism type 2E
Spinocerebellar ataxia type 6
Syndactyly type 3
Well-differentiated liposarcoma
Autosomal dominant spastic paraplegia type 13
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Pelizaeus-Merzbacher-like due to HSPD1 mutation
- GSD due to aldolase A deficiency
- GSD type 12
- Glycogen storage disease type 12
- Glycogenosis due to aldolase A deficiency
- Glycogenosis type 12

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hematologic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
ALDOA P04075103850
No signs/symptoms info available.